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511.
Roscioli T Kamsteeg EJ Buysse K Maystadt I van Reeuwijk J van den Elzen C van Beusekom E Riemersma M Pfundt R Vissers LE Schraders M Altunoglu U Buckley MF Brunner HG Grisart B Zhou H Veltman JA Gilissen C Mancini GM Delrée P Willemsen MA Ramadža DP Chitayat D Bennett C Sheridan E Peeters EA Tan-Sindhunata GM de Die-Smulders CE Devriendt K Kayserili H El-Hashash OA Stemple DL Lefeber DJ Lin YY van Bokhoven H 《Nature genetics》2012,44(5):581-585
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates. 相似文献
512.
Gui Y Guo G Huang Y Hu X Tang A Gao S Wu R Chen C Li X Zhou L He M Li Z Sun X Jia W Chen J Yang S Zhou F Zhao X Wan S Ye R Liang C Liu Z Huang P Liu C Jiang H Wang Y Zheng H Sun L Liu X Jiang Z Feng D Chen J Wu S Zou J Zhang Z Yang R Zhao J Xu C Yin W Guan Z Ye J Zhang H Li J Kristiansen K Nickerson ML Theodorescu D Li Y Zhang X Li S Wang J Yang H Wang J Cai Z 《Nature genetics》2011,43(9):875-878
Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer. 相似文献
513.
514.
For the preparation of any target Bell state under continuous quantum measurement, this paper proposes a method which achieves the control objective by switching between two different models or by switching between two control channels under one model. Proper control Hamiltonians are selected for the two system models, a switching strategy between the two models is designed, and the stability of the whole switching system is proved in theory. For a given target Bell state, the effectiveness of the proposed switching control strategy between different models is illustrated through simulation experiments. 相似文献
515.
以电解铜粉、鳞片状石墨粉及不同粒径的近球形石墨粉为原料,通过真空热压烧结工艺制备得到铜-石墨复合材料,并研究石墨形状、粒径对其显微组织、密度、致密度、电导率、硬度及抗压强度等性能的影响;在销盘式摩擦磨损试验机上考察其摩擦磨损性能,通过分析样品磨损表面的形貌,研究石墨形状和粒径对复合材料摩擦磨损性能的影响。结果表明:相比鳞片状石墨粉,采用相同粒径的近球形石墨粉有利于提高复合材料的致密度,获得更优异的力学性能,其抗压强度可以提高近65 MPa;随着近球形石墨粒径从19 μm减小到4 μm,复合材料的致密度、电导率、硬度、抗压强度和摩擦因数均逐渐降低,同时磨损量逐渐增大,其中,复合材料的电导率从28.6 %IACS降低至20.6 %IACS,抗压强度也降低约30 MPa。 相似文献
516.
A new buyer-seller watermarking protocol is proposed by applying a double encryption method and a novel mechanism of embedding a buyer's watermark. The protocol can effectively prevent against collusion attacks and the man in the middle attack if the third party is not trusted. Also, based on the proposed scheme for the first-hand transaction, a new buyer-reseller watermarking protocol and a formal multi-party watermarking protocol are also proposed. The proposed buyer-resell watermarking protocol only needs the original seller to provide transfer certificate and encryption-decryption service to support the second-hand transaction, and the multi-party watermarking protocol with distributed certificate authorities can overcome the difficulty in the combination of multicast mechanism with multiple unique watermarks and allow a seller to multicast the watermarked digital contents and key transaction information to n buyers. Furthermore, the idea of zero knowledge proof is also applied into the proposed scheme to allow the seller to take an effective control on the task performed by the third party. 相似文献
517.
Under the complicated electromagnetism circumstance, the model of data fusion control and guidance of surface-to-air missile weapon systems is established. Such ways and theories as Elman-NN, radar tracking and filter's data fusion net based on the group method for data-processing (GMRDF) are applied to constructing the model of data fusion. The highly reliable state estimation of the tracking targets and the improvement in accuracy of control and guidance are obtained. The purpose is optimization design of data fusion control and guidance of surface-to-air missile weapon systems and improving the fighting effectiveness of surface-to-air missile weapon systems. 相似文献
518.
SEA方法及其在$C^3I$系统效能分析中的应用(Ⅲ)——监视模型 总被引:5,自引:0,他引:5
针对SEA方法的要求,提出了评估$C^3I$系统在执行监视任务时的系统效能的三个性能量度(MOP),通过分析$C^3I$系统在执行监视任务时的行为过程和环境特点,结合排队理论,建立了评估$C^3I$系统监视效能的SEA方法模型.利用该模型计算了一个实际$C^3I$系统的监视效能,并对结果进行了简要分析. 相似文献
519.
520.
风机振动分析与故障诊断 总被引:8,自引:0,他引:8
应用振动分析方法、数据采集技术及诊断理论对某乙烯厂E-GB109风机进行了现场振动测量、信号的采集与分析诊断,找出了风机振动的原因。 相似文献